"GeneDx"[submitter] AND "SHROOM4"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58615	GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3	AKAP4, BMP15 +213 more	Copy number gain	See cases	GPathogenic
Select item 453008	NM_020717.5(SHROOM4):c.4303G>T (p.Val1435Leu)	SHROOM4 (V1435L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 452789	NM_020717.5(SHROOM4):c.4114C>A (p.Leu1372Met)	SHROOM4 (L1372M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 280530	NM_020717.5(SHROOM4):c.3739C>T (p.Gln1247Ter)	SHROOM4 (Q1247*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 379473	NM_020717.5(SHROOM4):c.3645C>G (p.Phe1215Leu)	SHROOM4 (F1215L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 197325	NM_020717.5(SHROOM4):c.2192A>G (p.Glu731Gly)	SHROOM4 (E731G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1342121	NM_020717.5(SHROOM4):c.1442A>G (p.Asp481Gly)	SHROOM4 (D481G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 423217	NM_020717.5(SHROOM4):c.769C>T (p.Arg257Cys)	SHROOM4 (R257C)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	GAGE12F, GAGE12G +822 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	FOXP3, FOXR2 +786 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	MCTS1, MECP2 +821 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	ABCB7, ABCD1 +821 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	EOLA2, ERAS +822 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	RENBP, REPS2 +821 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	SPANXD, TCEAL4 +822 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ALAS2, AMER1 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARMCX2, CFAP47 +821 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	MAGEE2, MTRNR2L10 +822 more	Copy number gain	See cases	GPathogenic

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Items: 24